Phenotypes associated with this allele

• Allele Symbol: Scyl1^tm1.1Spel
• Allele Name: targeted mutation 1.1, Stephane Pelletier
• Allele ID: MGI:5469960
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Scyl1^tm1.1Spel/Scyl1^tm1.1Spel	involves: 129S6/SvEvTac	MGI:6188976
hm2	Scyl1^tm1.1Spel/Scyl1^tm1.1Spel	involves: 129S6/SvEvTac * C57BL/6J	MGI:5469973
cx3	Scyl1^tm1.1Spel/Scyl1^tm1.1Spel Scyl3^tm1.1Spel/Scyl3^tm1.1Spel	involves: 129S6/SvEvTac * C57BL/6J	MGI:6188975

Genotype
MGI:6188976

hm1

• Allelic Composition: Scyl1^tm1.1Spel/Scyl1^tm1.1Spel
• Genetic Background: involves: 129S6/SvEvTac

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

nervous system

gliosis ( J:262629 )

♂ • in the ventral horn of the spinal cord

decreased motor neuron number ( J:262629 )

♂ • of large motor neurons in the ventral horn of the spinal cord at 8 weeks

motor neuron degeneration ( J:262629 )

♂ • at 8 weeks with Tardbp pathology

abnormal sciatic nerve morphology ( J:262629 )

♂ • reduced number of large caliber axons and total number of myelinated fibers in the sciatic nerve at 8 weeks of age

abnormal myelination ( J:262629 )

♂ • reduced total number of myelinated fibers in the sciatic nerve at 8 weeks of age

muscle

decreased skeletal muscle fiber diameter ( J:262629 )

♂ • reduced cross-sectional area in rectus femoris and bicep brachii at 4 and 8 weeks of age

skeletal muscle atrophy ( J:262629 )

♂ • multifocal neurogenic atrophy of muscles with rectus femoris and bicep brachii most severely affected

behavior/neurological

decreased grip strength ( J:262629 )

♂ • in a mesh gripe test

paralysis ( J:262629 )

♂ • progressive motor dysfunction leading to a paralysis

growth/size/body

postnatal growth retardation ( J:262629 )

♂ • by 3 weeks of age

Genotype
MGI:5469973

hm2

• Allelic Composition: Scyl1^tm1.1Spel/Scyl1^tm1.1Spel
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

mortality/aging

premature death ( J:192445 )

• severely affected mice are euthanized

muscle

increased variability of skeletal muscle fiber size ( J:192445 )

centrally nucleated skeletal muscle fibers ( J:192445 )

abnormal skeletal muscle fiber type ratio ( J:192445 )

• increased numbers of atrophic type I fibers

dystrophic muscle ( J:192445 )

• severity depends on affected muscle

muscular atrophy ( J:192445 )

• muscle wasting in posterior legs by 6 to 8 weeks

• widespread and conspicuous neurogenic atrophy in skeletal muscles with severity depending on affected muscle

nervous system

microgliosis ( J:192445 )

• mild to moderate

astrocytosis ( J:192445 )

• mild to moderate

abnormal motor neuron morphology ( J:192445 )

• cytoplasmic inclusions

decreased motor neuron number ( J:192445 )

motor neuron degeneration ( J:192445 )

demyelination ( J:192445 )

• fewer myelinated axons at 8 weeks especially large caliber axons

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:192445 )

• progressive motor dysfunction

• at 4 weeks, mice spend less time hanging from an inverted cage grid than wild-type mice

tremors ( J:192445 )

• by 6 weeks when suspended by tail

decreased grip strength ( J:192445 )

• at 4 weeks, mice spend less time hanging from an inverted cage grid than wild-type mice

abnormal locomotor coordination ( J:192445 )

• posterior waddle by 4 weeks

abnormal gait ( J:192445 )

• by 4 weeks

hindlimb paralysis ( J:192445 )

• at 8 to 20 weeks

skeleton

abnormal pelvic girdle bone morphology ( J:192445 )

• at 8 to 20 weeks, mice exhibit dorsoventral flattening of the pelvis

immune system

microgliosis ( J:192445 )

• mild to moderate

growth/size/body

decreased body weight ( J:192445 )

postnatal growth retardation ( J:192445 )

hematopoietic system

microgliosis ( J:192445 )

• mild to moderate

Genotype
MGI:6188975

cx3

• Allelic Composition: Scyl1^tm1.1Spel/Scyl1^tm1.1Spel; Scyl3^tm1.1Spel/Scyl3^tm1.1Spel
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

nervous system

gliosis ( J:262629 )

♂ • in the ventral horn of the spinal cord to a greater extent than in Scyl1^tm1.1Spel single homozygotes

decreased motor neuron number ( J:262629 )

♂ • of large motor neurons in the ventral horn of the spinal cord at 4 weeks compared with Scyl1^tm1.1Spel single homozygotes

♂ • at 8 weeks compared with wild-type mice

motor neuron degeneration ( J:262629 )

♂ • at 4 and 8 weeks with Tardbp pathology

abnormal sciatic nerve morphology ( J:262629 )

♂ • reduced number of large caliber axons and total number of myelinated fibers in the sciatic nerve at 4 weeks of age

♂ • at 8 weeks compared with wild-type mice

abnormal myelination ( J:262629 )

♂ • reduced total number of myelinated fibers in the sciatic nerve at 4 weeks of age

♂ • at 8 weeks compared with wild-type mice

growth/size/body

decreased body size ( J:262629 )

♂ • compared with either single homozygotes

decreased body height ( J:262629 )

♂ • at 8 weeks compared with Scyl1^tm1.1Spel single homozygotes

postnatal growth retardation ( J:262629 )

♂ • by 3 weeks of age

behavior/neurological

decreased grip strength ( J:262629 )

♂ • progressive motor dysfunction leading to a paralysis that is worse than in Scyl1^tm1.1Spel single homozygotes at the same age

paralysis ( J:262629 )

♂ • progressive motor dysfunction leading to a paralysis that is worse than in Scyl1^tm1.1Spel single homozygotes at the same age

muscle

decreased skeletal muscle fiber diameter ( J:262629 )

♂ • reduced cross-sectional area in rectus femoris and bicep brachii at 4 and 8 weeks of age that is more severe at 4 weeks than in Scyl1^tm1.1Spel single homozygotes

♂ • at 8 weeks compared with wild-type mice